Fabry Disease in Internal Medicine: The Role of Fever and Hyperthermia in Diagnosis
DOI:
https://doi.org/10.33393/gcnd.2017.701Keywords:
Cytochine, Fabry disease, Fever, Fever of unknown origin (FUO), Thermal autoregolation, Vascular damageAbstract
Fabry disease manifests as fever of unknown origin (FUO) in almost 20% of diagnosed cases. Inflammation parameters are usually variable. Abnormalities in thermal autoregulation can be true when fever is associated with acroparesthesia and paroxysmal abdominal pain as occurs in neuropathies. Otherwise, in the presence of signs and symptoms of chronic inflammation, cytokine secretion and activation is probably due to endothelial and macrophage globotrioside (Gb3) lysosomal storage; proteinuria (less than 1 g/24 hours) and vascular damage are often present, especially in those patients developing chronic kidney disease and/or cerebrovascular ischemic disease. The diagnosis of Fabry disease can be simplified by investigating the patient's clinical history regarding the presence of angiokeratomas, cornea verticillata, deafness and/or cardiomyopathy together with FUO. FUO onset can delay the diagnosis of Fabry disease and it is crucial to address Fabry disease in the etiopathogenesis of FUO, because early diagnosis of Fabry disease may delay its systemic progression.
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Authors contributing to Giornale di Clinica Nefrologica e Dialisi (GCND) agree to publish their articles under the CC-BY-NC 4.0 license, which allows third parties to re-use the work without permission as long as the work is properly referenced and the use is non-commercial.